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A targeting vector, containing the R278H (CGC to CAT) substitution and a floxed neomycin resistance (NeoR) gene, was inserted into the locus. The neo was subsequently removed via cre-mediated recombination. Western-blot analysis, performed on total lysate of thymocytes, showed that the mutant protein was expressed at slightly reduced levels as compared to wild-type. (J:157574)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
